Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Published byGülbahar Taşkıran Modified over 5 years ago

Similar presentations

Presentation on theme: "Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki."— Presentation transcript:

1 Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 
Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki Sato, Angela M. Christiano  Journal of Investigative Dermatology  Volume 130, Issue 3, Pages (March 2010) DOI: /jid Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigrees and clinical appearance of two Pakistani families with PHNED. (a) Pedigrees and results of haplotype analysis. The linked haplotypes are indicated in red, and critical recombination events are indicated by arrows. (b–e) Clinical features of affected individuals in Family A. (f) SEM observation of hair of an affected individual in Family A. Bar=100μm. (g, h) Clinical features of affected individuals in Family B. Note that affected individuals in Family B show a more severe phenotype than those in Family A. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Identification of mutations in the KRT85 gene. (a) A novel homozygous mutation c.1448_1449delCT (p.Pro483ArgfsX18) in the KRT85 gene in Family A. The deleted nucleotides are boxed. (b) Comparison of amino acid sequences between wild-type and the mutant K85 proteins with the mutation p.Pro483ArgfsX18. Amino acid position 483, where the frameshift occurs, is indicated by an arrow. Cysteine residues at positions 489 and 498 in wild-type protein are in blue. Asterisks, stop codon. (c) A homozygous mutation c.233G>A (p.Arg78His) in the KRT85 gene in Family B. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki."

Similar presentations

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Francesca Capon  Journal of Investigative Dermatology 

Francesca Capon  Journal of Investigative Dermatology 
Next-Generation Sequencing: Methodology and Application

Next-Generation Sequencing: Methodology and Application
Clinical Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology
A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,

A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.
Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family  Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito 

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family  Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito 
Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma  Megan Furniss, Claire A. Higgins, Amalia Martinez-Mir,

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma  Megan Furniss, Claire A. Higgins, Amalia Martinez-Mir,
Kavitha K. Reddy  Journal of Investigative Dermatology 

Kavitha K. Reddy  Journal of Investigative Dermatology 
Differences in Clinical Phenotype among Patients with XP Complementation Group D: 3D Structure and ATP-Docking of XPD In Silico  Eiji Nakano, Ryusuke.

Differences in Clinical Phenotype among Patients with XP Complementation Group D: 3D Structure and ATP-Docking of XPD In Silico  Eiji Nakano, Ryusuke.
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
Databases for Clinical Research

Databases for Clinical Research
Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13

Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13
A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis  Muhammad Arshad Rafiq, Muhammad.

A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis  Muhammad Arshad Rafiq, Muhammad.
Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis  Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Lawrence Shapiro,

Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis  Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Lawrence Shapiro,
Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene  Patrick Terheyden, Gundula.

Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene  Patrick Terheyden, Gundula.
Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M
A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect  Guofang Hu,

A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect  Guofang Hu,
The Thinning Top: Why Old People Have Less Hair

The Thinning Top: Why Old People Have Less Hair

Similar presentations

Ads by Google